Folleto Juan Felipe Giraldo Aristizábal
•Download as PPTX, PDF•
0 likes•509 views
Gene therapy is showing promise for treating certain genetic diseases. A new study found that using a partially inactivated lentivirus to deliver gene therapy for Wiskott-Aldrich Syndrome reduced the risk of cancer compared to previous treatments using retroviruses. Additionally, researchers were able to cure Sanfilippo Syndrome type A in mouse and dog models through a single injection of an adenoassociated viral vector into the cerebrospinal fluid to restore the missing enzyme activity. While more testing is needed, these results provide hope that gene therapy may provide a cure for these currently incurable genetic diseases.
Report
Share
Report
Share
Recommended
Pharmaceurtical role of nucleic acid
Nucleic acids have important pharmaceutical roles in treating cancer, cardiovascular, and autoimmune diseases. There are several approaches to gene therapy including inserting a normal gene to compensate for a nonfunctional one, changing gene regulation, or inserting an abnormal gene for normal function. Gene therapy can be somatic, affecting only the patient, or germline, passing genetic changes to offspring. It faces challenges like short-lived effects, potential immune responses, and difficulties treating multi-gene disorders. Successful gene therapy requires understanding disease processes, gene structure/function, efficient delivery methods, and control of expression and immune responses.
Gesika ref 2016
Brett Neilan, a professor at the University of New South Wales, wrote a letter of recommendation for Gesika Jørgensen. The letter states that Gesika volunteered as a laboratory assistant in 2016, where she prepared bacteria samples, performed techniques like PCR and plasmid transformations, and assisted masters and PhD students. Gesika successfully inserted various plasmids into E. coli, performed plasmid extractions and gel electrophoresis, and helped with general lab tasks. Professor Neilan recommends Gesika without reservation for any lab position based on her maturity and recent experience.
BDSRA 2015 CLN6 Mole
This document summarizes the results of a study testing a gene therapy approach to treat vision loss in a mouse model of Batten disease. The study found that:
1) Photoreceptor function and cells are lost early in Cln6 mice, making it a good model.
2) Treating only photoreceptors with an AAV virus carrying Cln6 did not prevent retinal degeneration, as Cln6 is more highly expressed in inner retinal cells.
3) A new AAV virus was obtained that can target inner retinal cells like bipolar cells, which normally express high Cln6 levels. Future work will treat Cln6 mice with this new virus alone and combined with the original
GENE THERAPY.1.pptx
Above slides consist of detailed information of gene therapy,including types, methods, future needs along with advantages and disadvantages
Bax
This study investigated the role of the BAX protein in isoflurane-induced neuronal apoptosis in neonatal mice. The researchers found that BAX knockout mice had less baseline apoptosis in the cortex and caudate-putamen compared to wild type mice. Exposure to isoflurane anesthesia for 4 hours did not increase neuroapoptosis in BAX knockout mice, but did increase it in wild type mice. This suggests that blocking the apoptotic cascade by inhibiting BAX may reduce or eliminate anesthesia-induced neurotoxicity in developing brains.
Gene therapy (1)
Gene therapy involves inserting normal genes into patients to compensate for mutated genes that cause disease. There are four main approaches: gene replacement, gene correction, gene regulation, or selective mutation reversal. The first gene therapy treated a girl for severe combined immunodeficiency in 1990 by removing her white blood cells, inserting the missing gene, and returning the cells. While some early gene therapies showed promise, they also encountered problems like short-lived effects, immune responses, and in rare cases caused leukemia. Recent research aims to improve vectors and target delivery to overcome past issues. The first successful human gene therapy trials treated immunodeficiency and Parkinson's disease with no reported adverse events.
Gene Therapy
This presentation will cover mainly Gene Therapy and their subtopics, This presentation is made by Miss Nadia Muzaffar.
Hypothermia
This study investigated whether mild hypothermia (33°C core temperature) provides protection against neuronal apoptosis induced by anesthesia in neonatal mice. The researchers found that hypothermia to 33°C reduced anesthesia-induced neuroapoptosis in the cortex by approximately 30% compared to normothermia (37°C), and deeper hypothermia to 30°C provided further reduction in the cortex but not in the caudate-putamen region of the brain. However, the protection from hypothermia was only modest, and a safer intervention to reduce neuroapoptosis is still needed.
Recommended
Pharmaceurtical role of nucleic acid
Nucleic acids have important pharmaceutical roles in treating cancer, cardiovascular, and autoimmune diseases. There are several approaches to gene therapy including inserting a normal gene to compensate for a nonfunctional one, changing gene regulation, or inserting an abnormal gene for normal function. Gene therapy can be somatic, affecting only the patient, or germline, passing genetic changes to offspring. It faces challenges like short-lived effects, potential immune responses, and difficulties treating multi-gene disorders. Successful gene therapy requires understanding disease processes, gene structure/function, efficient delivery methods, and control of expression and immune responses.
Gesika ref 2016
Brett Neilan, a professor at the University of New South Wales, wrote a letter of recommendation for Gesika Jørgensen. The letter states that Gesika volunteered as a laboratory assistant in 2016, where she prepared bacteria samples, performed techniques like PCR and plasmid transformations, and assisted masters and PhD students. Gesika successfully inserted various plasmids into E. coli, performed plasmid extractions and gel electrophoresis, and helped with general lab tasks. Professor Neilan recommends Gesika without reservation for any lab position based on her maturity and recent experience.
BDSRA 2015 CLN6 Mole
This document summarizes the results of a study testing a gene therapy approach to treat vision loss in a mouse model of Batten disease. The study found that:
1) Photoreceptor function and cells are lost early in Cln6 mice, making it a good model.
2) Treating only photoreceptors with an AAV virus carrying Cln6 did not prevent retinal degeneration, as Cln6 is more highly expressed in inner retinal cells.
3) A new AAV virus was obtained that can target inner retinal cells like bipolar cells, which normally express high Cln6 levels. Future work will treat Cln6 mice with this new virus alone and combined with the original
GENE THERAPY.1.pptx
Above slides consist of detailed information of gene therapy,including types, methods, future needs along with advantages and disadvantages
Bax
This study investigated the role of the BAX protein in isoflurane-induced neuronal apoptosis in neonatal mice. The researchers found that BAX knockout mice had less baseline apoptosis in the cortex and caudate-putamen compared to wild type mice. Exposure to isoflurane anesthesia for 4 hours did not increase neuroapoptosis in BAX knockout mice, but did increase it in wild type mice. This suggests that blocking the apoptotic cascade by inhibiting BAX may reduce or eliminate anesthesia-induced neurotoxicity in developing brains.
Gene therapy (1)
Gene therapy involves inserting normal genes into patients to compensate for mutated genes that cause disease. There are four main approaches: gene replacement, gene correction, gene regulation, or selective mutation reversal. The first gene therapy treated a girl for severe combined immunodeficiency in 1990 by removing her white blood cells, inserting the missing gene, and returning the cells. While some early gene therapies showed promise, they also encountered problems like short-lived effects, immune responses, and in rare cases caused leukemia. Recent research aims to improve vectors and target delivery to overcome past issues. The first successful human gene therapy trials treated immunodeficiency and Parkinson's disease with no reported adverse events.
Gene Therapy
This presentation will cover mainly Gene Therapy and their subtopics, This presentation is made by Miss Nadia Muzaffar.
Hypothermia
This study investigated whether mild hypothermia (33°C core temperature) provides protection against neuronal apoptosis induced by anesthesia in neonatal mice. The researchers found that hypothermia to 33°C reduced anesthesia-induced neuroapoptosis in the cortex by approximately 30% compared to normothermia (37°C), and deeper hypothermia to 30°C provided further reduction in the cortex but not in the caudate-putamen region of the brain. However, the protection from hypothermia was only modest, and a safer intervention to reduce neuroapoptosis is still needed.
Gene Therapy
Gene therapy is an experimental technique that uses genes to treat or prevent disease. There are two types of gene therapy - somatic gene therapy, which treats cells of the body but not reproductive cells, and germline gene therapy, which treats reproductive cells and can be passed to future generations. There are several techniques for gene therapy including gene augmentation therapy, which adds a functional gene to replace a non-functioning one; gene inhibition therapy, which inhibits or interferes with a disease-causing gene; and gene killing therapy, which inserts a "suicide gene" to kill specific diseased cells. A key challenge is safely delivering the new gene to the right cells and ensuring it is expressed without disrupting other genes or triggering
Gene therapy
Gene therapy is the process of inserting genes into a person's cells to treat disease. Recent advances have led to successful clinical trials for diseases like retinal disorders, cancers, and genetic disorders. There are two main strategies for gene therapy - gene augmentation replaces a missing gene, while gene inhibition therapy blocks a dominant gene. Viruses are commonly used as vectors to deliver therapeutic genes. While promising, gene therapy still faces challenges like short-lived effects, immune responses, and difficulties treating multi-gene disorders and cancers located in multiple sites.
The Necessary
A potential vision of the future "the ncecessary", developed for a presentation at to be provocative. The goal was to think about the near and far future and put it into context with some of the science happening now as well as disruptive steps happening in rare disease science funding. Several slides highlight 'the ideal situation'.
BDSRA 2015 Gene Therapy for the Eye, Mole
A gene therapy targeting the eye may help treat vision loss in juvenile Batten disease patients by slowing or stopping the progression of retinal degeneration. The retina contains light-sensitive cells that are essential for vision but are lost in juvenile Batten disease due to a genetic defect. While other therapies aim to treat symptoms in the brain, the eye has not been targeted yet. Gene therapy could introduce healthy copies of the defective gene into photoreceptor cells via a virus delivered by subretinal injection to improve vision and quality of life for patients.
BDSRA 2015 CLN1 Hofmann
This study tested intrathecal enzyme replacement therapy (ERT) in a mouse model of infantile Batten disease. Mice lacking the enzyme palmitoyl-protein thioesterase 1 (PPT1) received a single intrathecal injection of recombinant human PPT1 at 6 weeks of age. This prevented decline in motor function, improved survival, and reduced brain and spinal cord pathology compared to untreated mice. The effects were similar to ERT for another form of Batten disease. This suggests intrathecal ERT may help treat infantile Batten disease caused by PPT1 deficiency in humans.
Gene therapy shi.,
Gene therapy is a technique for correcting defective genes that cause disease by inserting a normal gene to compensate, replacing an abnormal gene with a normal one, or repairing an abnormal gene. The first gene therapy was performed in 1990 on a child with severe combined immunodeficiency by removing her white blood cells, inserting the missing gene, and returning the cells. However, it only provided a temporary improvement. Gene therapy involves using a vector to deliver a therapeutic gene into a patient's target cells so that functional proteins are produced to return the cells to a normal state.
BDSRA 2015 CLN3 Kielian
Neuroinflammation contributes to neuron loss in juvenile Batten disease. The study tests the anti-inflammatory drug roflumilast in a mouse model of the disease. Researchers found that roflumilast treatment for 3 months improved motor function in mice and reduced microglia and astrocyte activation associated with neuroinflammation. The results suggest reducing neuroinflammation through anti-inflammatory drugs may help slow disease progression in juvenile Batten disease.
Erik Boot - Studying Psychosis in 22q11 Deletion Syndrome
Presentation made July 28, 2016 at the live webinar hosted by the Schizophrenia Research Forum and titled Studying Psychosis in 22q11 Deletion Syndrome. More details and video recording at http://www.schizophreniaforum.org/for/live/detail.asp?liveID=100
2016 BDSRA Shyng, Nelvagal, Dearborn, Cooper, Sands CLN1
2016 BDSRA Shyng, Nelvagal, Dearborn, Cooper, Sands CLN1Batten Disease Support and Research Association
This study evaluated different methods of gene therapy to treat infantile Batten disease (INCL) in a mouse model. Intrathecal injection targeting the spinal cord alone extended lifespan by 3 months and showed motor deficits at 7 months while decreasing disease markers in the spinal cord but not brain. Intracranial injection targeting the brain alone extended lifespan by 5.3 months and showed motor deficits at 9 months while decreasing markers in the brain but not spinal cord. Combination intrathecal and intracranial injection provided the most effective treatment, extending lifespan by 11.5 months and delaying motor deficits until 15 months by decreasing disease markers in both the brain and spinal cord. Targeting both areas simultaneously provided dramatic improvement over targeting2013 ANCL Mole
This document summarizes research from the MRC Laboratory for Molecular Cell Biology on adult Batten disease. The laboratory aims to identify the genetic causes of adult onset neuronal ceroid lipofuscinosis (NCL) by collecting cases, analyzing for mild mutations in known NCL genes, and using new sequencing technologies to identify novel genes. They have identified mutations in several known childhood NCL genes that can cause adult onset disease. By collaborating with other labs and using their diagnostic approach, they have also identified some new NCL genes underlying adult variants. Identifying the causal genes is the first step towards developing targeted therapies for these currently untreatable genetic diseases.
Mannix, Rebekah
1. The study examined the effects of genetically inhibiting β-site APP cleaving enzyme 1 (BACE1), which produces amyloid beta (Aβ), on functional outcomes after traumatic brain injury (TBI) in young adult mice.
2. The study found that BACE1 knockout mice performed worse on motor and cognitive tests after TBI compared to wild type mice.
3. The results suggest that further study is needed to evaluate therapies targeting BACE1-derived Aβ after TBI, as inhibition may not be beneficial across all age groups and injury severities.
Ozurdex for macular edema in retinitis pigmentosa
This case report describes a patient with Usher syndrome and retinitis pigmentosa who developed macular edema. She was treated with intravitreal injections of the corticosteroid Ozurdex, which led to resolution of the macular edema. However, the effect was temporary and she required multiple injections over time. The response to Ozurdex supports the hypothesis that inflammation contributes to macular edema in retinitis pigmentosa patients. Ozurdex may be considered for treating refractory macular edema, but the temporary response requires re-injections.
The Role of Cyberknife by Dr. David Spellberg
In this presentation Dr. David Spellberg explains the role of the Cyberknife process in treating localized prostate cancer.
Eylea switch
This document discusses long-term treatment considerations for age-related macular degeneration (AMD). It notes that AMD is a chronic disease that can be stabilized and controlled with treatment, but does not have an end. Vision is often lost due to insufficient long-term treatment, with most patients receiving treatment for 3 years and some for up to 10 years. Undertreatment is identified as a primary risk factor for vision loss. The document advocates for flexible, personalized "treat and extend" regimens to reduce clinic visits and prevent relapses while maintaining vision with fewer injections over time compared to PRN approaches. Evidence from multiple studies and meta-analyses supports switching resistant AMD patients to aflibercept therapy, which has demonstrated visual
Alz forumslides jam2
This document summarizes a webinar discussion on a network analysis study of gene expression data from post-mortem brain samples of Alzheimer's disease patients and controls. The study used large sample sizes and extensive clinical characterization to identify gene co-expression modules associated with different brain cell types and Alzheimer's pathology. A microglia module showed increased expression correlated with neurofibrillary tangle burden in controls, suggesting microglia may play an early role in Alzheimer's disease pathogenesis. The top hub gene in this module, TYROBP, has also been found upregulated in tangle-bearing neurons, consistent with microglia involvement in early Alzheimer's disease.
Pizza club - February 2017 - Gemma
Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Bosch et al, Journal of Neuroscience, 2016
https://doi.org/10.1523/JNEUROSCI.1635-16.2016
Genetics, the pillars for new discoveries
The document discusses two recent studies on genetics and genetic engineering. The first study developed a new type of restriction enzyme that recognizes longer DNA cutting sites, making it more specific. The second study identified a rare form of Congenital Adrenal Hyperplasia caused by an 11 beta hydroxilase deficiency linked to consanguineous marriages in some regions. Knowing the complete genetic profile of diseases can help develop improved treatments. A student comments that both studies will aid genetic research and modifying DNA to treat diseases.
The cell & evolution
The document discusses two research articles about Alzheimer's and Parkinson's diseases. For Alzheimer's, the article discusses how tau proteins jump between neurons using extracellular space and how blocking the protein in this space could help control the spread of Alzheimer's in the brain. For Parkinson's, the article discusses how a mutant LRRK2 gene promotes alpha-synuclein inclusions and how inhibiting this gene could decrease inclusions and pave the way for new treatments. Recognizing the cellular and genetic factors involved in these diseases can help identify causes and potential new treatment targets.
The future of treatments for PD psych research symposium poster 1_20162
This document provides information on Parkinson's disease (PD) and current research. It discusses:
- LRRK2 gene mutations as a common genetic cause of PD and how they disrupt protein recycling and cause cell death.
- Current treatments for PD like drugs that supplement dopamine or inhibit enzymes that break it down, but these only treat symptoms and have side effects.
- Promising research on closed-loop deep brain stimulation and cell transplant therapies that could modify disease progression.
- Ongoing clinical studies of these future treatments and the hope they provide for improving PD treatment.
New frontiers in amd treatment
This document discusses new treatments for age-related macular degeneration (AMD), which is a leading cause of blindness. It outlines several anti-inflammatory therapies, anti-oxidative stress therapies, visual cycle modifying agents, and choroidal blood flow enhancing agents that are being studied in clinical trials to treat dry AMD. It also discusses emerging therapeutic options for wet AMD such as anti-platelet-derived growth factor agents, new anti-VEGF drugs, and sustained drug delivery devices. Finally, it reviews several new intraocular lens designs that aim to improve vision for patients with AMD through magnification or image displacement.
Angelman
Angelman Syndrome is a neurogenetic disorder characterized by delayed development, intellectual disability, impaired speech, movement problems, and seizures. It is caused by a deletion or mutation on chromosome 15 in 70% of cases. Symptoms include happy demeanor, laughter, hand-flapping, hyperactivity, and sleep issues. Treatment focuses on medication, therapy, and communication techniques due to significant speech limitations. The condition affects approximately 1 in 10,000 births.
Wiskott aldrich syndrome-yashwant kumar
Wiskott-Aldrich Syndrome is a rare X-linked immunodeficiency disease characterized by immunodeficiency, thrombocytopenia, and eczema. It is caused by mutations in the WAS protein gene which regulates actin cytoskeleton organization. This leads to defects in T-cells and B-cells, recurrent infections, bleeding issues, and increased cancer risk. The only cure is hematopoietic stem cell transplant from a matched sibling donor, while treatment focuses on antibiotics, platelet transfusions, and IVIG for antibody replacement.
More Related Content
What's hot
Gene Therapy
Gene therapy is an experimental technique that uses genes to treat or prevent disease. There are two types of gene therapy - somatic gene therapy, which treats cells of the body but not reproductive cells, and germline gene therapy, which treats reproductive cells and can be passed to future generations. There are several techniques for gene therapy including gene augmentation therapy, which adds a functional gene to replace a non-functioning one; gene inhibition therapy, which inhibits or interferes with a disease-causing gene; and gene killing therapy, which inserts a "suicide gene" to kill specific diseased cells. A key challenge is safely delivering the new gene to the right cells and ensuring it is expressed without disrupting other genes or triggering
Gene therapy
Gene therapy is the process of inserting genes into a person's cells to treat disease. Recent advances have led to successful clinical trials for diseases like retinal disorders, cancers, and genetic disorders. There are two main strategies for gene therapy - gene augmentation replaces a missing gene, while gene inhibition therapy blocks a dominant gene. Viruses are commonly used as vectors to deliver therapeutic genes. While promising, gene therapy still faces challenges like short-lived effects, immune responses, and difficulties treating multi-gene disorders and cancers located in multiple sites.
The Necessary
A potential vision of the future "the ncecessary", developed for a presentation at to be provocative. The goal was to think about the near and far future and put it into context with some of the science happening now as well as disruptive steps happening in rare disease science funding. Several slides highlight 'the ideal situation'.
BDSRA 2015 Gene Therapy for the Eye, Mole
A gene therapy targeting the eye may help treat vision loss in juvenile Batten disease patients by slowing or stopping the progression of retinal degeneration. The retina contains light-sensitive cells that are essential for vision but are lost in juvenile Batten disease due to a genetic defect. While other therapies aim to treat symptoms in the brain, the eye has not been targeted yet. Gene therapy could introduce healthy copies of the defective gene into photoreceptor cells via a virus delivered by subretinal injection to improve vision and quality of life for patients.
BDSRA 2015 CLN1 Hofmann
This study tested intrathecal enzyme replacement therapy (ERT) in a mouse model of infantile Batten disease. Mice lacking the enzyme palmitoyl-protein thioesterase 1 (PPT1) received a single intrathecal injection of recombinant human PPT1 at 6 weeks of age. This prevented decline in motor function, improved survival, and reduced brain and spinal cord pathology compared to untreated mice. The effects were similar to ERT for another form of Batten disease. This suggests intrathecal ERT may help treat infantile Batten disease caused by PPT1 deficiency in humans.
Gene therapy shi.,
Gene therapy is a technique for correcting defective genes that cause disease by inserting a normal gene to compensate, replacing an abnormal gene with a normal one, or repairing an abnormal gene. The first gene therapy was performed in 1990 on a child with severe combined immunodeficiency by removing her white blood cells, inserting the missing gene, and returning the cells. However, it only provided a temporary improvement. Gene therapy involves using a vector to deliver a therapeutic gene into a patient's target cells so that functional proteins are produced to return the cells to a normal state.
BDSRA 2015 CLN3 Kielian
Neuroinflammation contributes to neuron loss in juvenile Batten disease. The study tests the anti-inflammatory drug roflumilast in a mouse model of the disease. Researchers found that roflumilast treatment for 3 months improved motor function in mice and reduced microglia and astrocyte activation associated with neuroinflammation. The results suggest reducing neuroinflammation through anti-inflammatory drugs may help slow disease progression in juvenile Batten disease.
Erik Boot - Studying Psychosis in 22q11 Deletion Syndrome
Presentation made July 28, 2016 at the live webinar hosted by the Schizophrenia Research Forum and titled Studying Psychosis in 22q11 Deletion Syndrome. More details and video recording at http://www.schizophreniaforum.org/for/live/detail.asp?liveID=100
2016 BDSRA Shyng, Nelvagal, Dearborn, Cooper, Sands CLN1
2016 BDSRA Shyng, Nelvagal, Dearborn, Cooper, Sands CLN1Batten Disease Support and Research Association
This study evaluated different methods of gene therapy to treat infantile Batten disease (INCL) in a mouse model. Intrathecal injection targeting the spinal cord alone extended lifespan by 3 months and showed motor deficits at 7 months while decreasing disease markers in the spinal cord but not brain. Intracranial injection targeting the brain alone extended lifespan by 5.3 months and showed motor deficits at 9 months while decreasing markers in the brain but not spinal cord. Combination intrathecal and intracranial injection provided the most effective treatment, extending lifespan by 11.5 months and delaying motor deficits until 15 months by decreasing disease markers in both the brain and spinal cord. Targeting both areas simultaneously provided dramatic improvement over targeting2013 ANCL Mole
This document summarizes research from the MRC Laboratory for Molecular Cell Biology on adult Batten disease. The laboratory aims to identify the genetic causes of adult onset neuronal ceroid lipofuscinosis (NCL) by collecting cases, analyzing for mild mutations in known NCL genes, and using new sequencing technologies to identify novel genes. They have identified mutations in several known childhood NCL genes that can cause adult onset disease. By collaborating with other labs and using their diagnostic approach, they have also identified some new NCL genes underlying adult variants. Identifying the causal genes is the first step towards developing targeted therapies for these currently untreatable genetic diseases.
Mannix, Rebekah
1. The study examined the effects of genetically inhibiting β-site APP cleaving enzyme 1 (BACE1), which produces amyloid beta (Aβ), on functional outcomes after traumatic brain injury (TBI) in young adult mice.
2. The study found that BACE1 knockout mice performed worse on motor and cognitive tests after TBI compared to wild type mice.
3. The results suggest that further study is needed to evaluate therapies targeting BACE1-derived Aβ after TBI, as inhibition may not be beneficial across all age groups and injury severities.
Ozurdex for macular edema in retinitis pigmentosa
This case report describes a patient with Usher syndrome and retinitis pigmentosa who developed macular edema. She was treated with intravitreal injections of the corticosteroid Ozurdex, which led to resolution of the macular edema. However, the effect was temporary and she required multiple injections over time. The response to Ozurdex supports the hypothesis that inflammation contributes to macular edema in retinitis pigmentosa patients. Ozurdex may be considered for treating refractory macular edema, but the temporary response requires re-injections.
The Role of Cyberknife by Dr. David Spellberg
In this presentation Dr. David Spellberg explains the role of the Cyberknife process in treating localized prostate cancer.
Eylea switch
This document discusses long-term treatment considerations for age-related macular degeneration (AMD). It notes that AMD is a chronic disease that can be stabilized and controlled with treatment, but does not have an end. Vision is often lost due to insufficient long-term treatment, with most patients receiving treatment for 3 years and some for up to 10 years. Undertreatment is identified as a primary risk factor for vision loss. The document advocates for flexible, personalized "treat and extend" regimens to reduce clinic visits and prevent relapses while maintaining vision with fewer injections over time compared to PRN approaches. Evidence from multiple studies and meta-analyses supports switching resistant AMD patients to aflibercept therapy, which has demonstrated visual
Alz forumslides jam2
This document summarizes a webinar discussion on a network analysis study of gene expression data from post-mortem brain samples of Alzheimer's disease patients and controls. The study used large sample sizes and extensive clinical characterization to identify gene co-expression modules associated with different brain cell types and Alzheimer's pathology. A microglia module showed increased expression correlated with neurofibrillary tangle burden in controls, suggesting microglia may play an early role in Alzheimer's disease pathogenesis. The top hub gene in this module, TYROBP, has also been found upregulated in tangle-bearing neurons, consistent with microglia involvement in early Alzheimer's disease.
Pizza club - February 2017 - Gemma
Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3), Bosch et al, Journal of Neuroscience, 2016
https://doi.org/10.1523/JNEUROSCI.1635-16.2016
Genetics, the pillars for new discoveries
The document discusses two recent studies on genetics and genetic engineering. The first study developed a new type of restriction enzyme that recognizes longer DNA cutting sites, making it more specific. The second study identified a rare form of Congenital Adrenal Hyperplasia caused by an 11 beta hydroxilase deficiency linked to consanguineous marriages in some regions. Knowing the complete genetic profile of diseases can help develop improved treatments. A student comments that both studies will aid genetic research and modifying DNA to treat diseases.
The cell & evolution
The document discusses two research articles about Alzheimer's and Parkinson's diseases. For Alzheimer's, the article discusses how tau proteins jump between neurons using extracellular space and how blocking the protein in this space could help control the spread of Alzheimer's in the brain. For Parkinson's, the article discusses how a mutant LRRK2 gene promotes alpha-synuclein inclusions and how inhibiting this gene could decrease inclusions and pave the way for new treatments. Recognizing the cellular and genetic factors involved in these diseases can help identify causes and potential new treatment targets.
The future of treatments for PD psych research symposium poster 1_20162
This document provides information on Parkinson's disease (PD) and current research. It discusses:
- LRRK2 gene mutations as a common genetic cause of PD and how they disrupt protein recycling and cause cell death.
- Current treatments for PD like drugs that supplement dopamine or inhibit enzymes that break it down, but these only treat symptoms and have side effects.
- Promising research on closed-loop deep brain stimulation and cell transplant therapies that could modify disease progression.
- Ongoing clinical studies of these future treatments and the hope they provide for improving PD treatment.
New frontiers in amd treatment
This document discusses new treatments for age-related macular degeneration (AMD), which is a leading cause of blindness. It outlines several anti-inflammatory therapies, anti-oxidative stress therapies, visual cycle modifying agents, and choroidal blood flow enhancing agents that are being studied in clinical trials to treat dry AMD. It also discusses emerging therapeutic options for wet AMD such as anti-platelet-derived growth factor agents, new anti-VEGF drugs, and sustained drug delivery devices. Finally, it reviews several new intraocular lens designs that aim to improve vision for patients with AMD through magnification or image displacement.
What's hot (20)
Erik Boot - Studying Psychosis in 22q11 Deletion Syndrome
Erik Boot - Studying Psychosis in 22q11 Deletion Syndrome
2016 BDSRA Shyng, Nelvagal, Dearborn, Cooper, Sands CLN1
2016 BDSRA Shyng, Nelvagal, Dearborn, Cooper, Sands CLN1
The future of treatments for PD psych research symposium poster 1_20162
The future of treatments for PD psych research symposium poster 1_20162
Viewers also liked
Angelman
Angelman Syndrome is a neurogenetic disorder characterized by delayed development, intellectual disability, impaired speech, movement problems, and seizures. It is caused by a deletion or mutation on chromosome 15 in 70% of cases. Symptoms include happy demeanor, laughter, hand-flapping, hyperactivity, and sleep issues. Treatment focuses on medication, therapy, and communication techniques due to significant speech limitations. The condition affects approximately 1 in 10,000 births.
Wiskott aldrich syndrome-yashwant kumar
Wiskott-Aldrich Syndrome is a rare X-linked immunodeficiency disease characterized by immunodeficiency, thrombocytopenia, and eczema. It is caused by mutations in the WAS protein gene which regulates actin cytoskeleton organization. This leads to defects in T-cells and B-cells, recurrent infections, bleeding issues, and increased cancer risk. The only cure is hematopoietic stem cell transplant from a matched sibling donor, while treatment focuses on antibiotics, platelet transfusions, and IVIG for antibody replacement.
07-24-09 Angelman ATRI Presentation
Presented at the 2009 ASF Biennial Conference in Orlando, FL., the Angelman Syndrome Foundation announced the establishment of the Angelman Treatment and Research Institute (ATRI). Please visit www.angelman.org for more information.
Designing Teams for Emerging Challenges
The document discusses designing teams and processes to adapt to changing needs. It recommends structuring teams so members can work within their competencies and across projects fluidly with clear roles and expectations. The design process should support the team and their work, and be flexible enough to change with team, organization, and project needs. An effective team culture builds an environment where members feel free to be themselves, voice opinions, and feel supported.
UX, ethnography and possibilities: for Libraries, Museums and Archives
1) The document discusses how the University of York Library has used various user experience (UX) techniques like ethnographic observation and interviews to better understand user needs and behaviors.
2) Some changes implemented based on UX findings include installing hot water taps, changing hours, and adding blankets - aimed at improving the small details of user experience.
3) The presentation encourages other libraries, archives and museums to try incorporating UX techniques like behavioral mapping and cognitive interviews to inform design changes that enhance services for users.
Visual Design with Data
An immersive workshop at General Assembly, SF. I typically teach this workshop at General Assembly, San Francisco. To see a list of my upcoming classes, visit https://generalassemb.ly/instructors/seth-familian/4813
I also teach this workshop as a private lunch-and-learn or half-day immersive session for corporate clients. To learn more about pricing and availability, please contact me at http://familian1.com
3 Things Every Sales Team Needs to Be Thinking About in 2017
Thinking about your sales team's goals for 2017? Drift's VP of Sales shares 3 things you can do to improve conversion rates and drive more revenue.
Read the full story on the Drift blog here: http://blog.drift.com/sales-team-tips
How to Become a Thought Leader in Your Niche
Are bloggers thought leaders? Here are some tips on how you can become one. Provide great value, put awesome content out there on a regular basis, and help others.
Viewers also liked (8)
UX, ethnography and possibilities: for Libraries, Museums and Archives
UX, ethnography and possibilities: for Libraries, Museums and Archives
3 Things Every Sales Team Needs to Be Thinking About in 2017
3 Things Every Sales Team Needs to Be Thinking About in 2017
Similar to Folleto Juan Felipe Giraldo Aristizábal
Gene therapy
This presentation focuses on the science of Gene Therapy, the techniques of germ-line and somatic gene therapy and the mechanism of curing diseases and disorders using gene therapy. The presentation starts by discussing some common basic terms from genetics and moves on to the historical development of gene therapy techniques in chronological order. The different types of gene therapy techniques and their mechanisms have been discussed in detail subsequently. In concluding slides, some commercially available gene therapy products are mentioned and challenges of gene-therapy techniques have been highlighted.
Gene therapy
This document provides an overview of gene therapy, including its types, approaches, vectors used, delivery methods, applications, advantages, and disadvantages. Gene therapy involves introducing normal genes into cells to replace missing or defective genes and correct genetic disorders. The first approved gene therapy experiment treated a child for ADA-SCID. Somatic and germline gene therapy are the two main types. Vectors deliver therapeutic genes and include viral vectors like retroviruses and lentiviruses and non-viral methods. Applications show promise for diseases like cancer, cystic fibrosis, hemophilia, and neurological disorders. However, risks include toxicity, immune responses, and unpredictable effects that require further research.
Nucleic acid based therapeutic delivery system
Myself Omkar Tipugade , PG Student of Department of Pharmaceutics. today I will discus on the topic Gene Therapy . In that we discus about the method for gene therapy & its application for disease treatment.
Nucleic Acid Delivery System
Definition, Gene therapy, types of gene therapy, germline gene therapy, somatic cell gene therapy, basic process of gene therapy and potential targets for gene therapy.
Strategies of gene therapy
Gene therapy involves introducing DNA into a patient's cells to treat a disease. There are four main strategies of gene therapy: gene augmentation therapy which adds a functional gene; targeted killing of specific cells like cancer cells; targeted mutation correction; and targeted inhibition of gene expression. Gene therapy shows promise for diseases like cystic fibrosis, hemophilia, cancer and more. Challenges remain around safely delivering genes to the right cells and avoiding immune responses.
GENE THERAPY
This document provides an overview of gene therapy, including its history, mechanisms, and applications in dentistry. Gene therapy involves introducing genetic material into cells to treat or prevent disease. Viruses are commonly used as vectors to deliver therapeutic genes. The document discusses various gene therapy techniques for conditions like oral cancer, pain management, bone regeneration, and salivary gland disorders. It concludes that gene therapy has potential for improving management of oral diseases and quality of life.
Genes.ppt2003
This document provides an overview of gene therapy, including its history, approaches, delivery methods, applications, and challenges. Gene therapy involves introducing a normal gene into cells containing a defective gene in order to correct the underlying genetic disorder. It can be carried out in vivo by using viral vectors to deliver the therapeutic gene directly into patients, or in vitro by manipulating cells outside the body before reintroducing them. Many genetic diseases have been targeted, including immunodeficiencies, cancers, hemoglobinopathies, and rare diseases. While gene therapy holds promise, challenges remain such as short-lived effects, immune responses, and ethical concerns.
Gene therapy ppt
Gene therapy involves inserting normal genes into patients to replace abnormal genes that cause disease. It is being studied for many diseases like immunodeficiencies, hemophilia, Parkinson's, and cancer. The first gene therapy occurred in 1990 and involved treating a genetic immune deficiency. While it offers potential cures, there are also risks and ethical concerns around its use.
Gene therapy for Biotechnologist
This document discusses gene therapy, including its history, mechanisms, applications, challenges, and recent developments. It provides an overview of the first human gene therapy trials in 1990 for severe combined immunodeficiency, as well as both successful and unsuccessful early gene therapy cases. Recent progress includes using gene therapy to potentially treat Parkinson's disease, cancer, blood disorders, and inherited blindness. Overall, the document outlines the key concepts and timeline of gene therapy from its beginnings to current research.
Gene Therapy drugs-1.pptx
Gene therpay is a promising treatment process and it involves the use of various drugs and their mechanisms are important to study for their effevtive usage.
NUCLEIC ACID BASED THERAPEUTIC DELIVERY SYSTEM by pramesh..pptx
Name of the title: Nucleic Acid-Based Therapeutic Delivery System.
It includes information about nucleic acid, gene therapy, and its type, a method to deliver the desired DNA, i.e., vectors and their types, with proper examples and diagrams, and how these things help in delivering a nucleic acid-based therapeutic drug delivery system.
Genetherapypresentation 120220051948-phpapp02
Gene therapy is an experimental technique that aims to correct defective genes responsible for disease development. It works by inserting a normal gene to replace an abnormal one. Researchers are studying gene therapy for diseases like SCID, hemophilia, Parkinson's, cancer and HIV. Early attempts date back to the 1960s but the first approved human gene therapy trial was in 1990 for a genetic immune deficiency. Since then, gene therapy has been used successfully to treat various diseases while also facing some setbacks. It delivers therapeutic genes into patient cells using either viral or non-viral vectors in order to potentially offer permanent effects for inherited conditions.
Gene therapy
Gene therapy is the process of inserting genes into cells to prevent, treat or cure wide range of diseases. Gene therapy primarily involves genetic manipulations in animals or humans to correct a disease. Gene augmentation therapy: a DNA is inserted into the Genome to replace the missing gene product.Gene inhibition therapy: the antisense gene inhibits the expression of the dominant gene.
INNOVATIONS: ARRIVAL OF GENE THERAPY
Gene therapy is a type of treatment that inserts healthy genes into cells to replace mutated genes causing disease. Several gene therapies have been approved to treat various cancers, viral infections, and inherited disorders. Approved therapies work by using viruses to insert healthy genes, interfering with faulty genes, or modifying cells before reintroducing them. Currently, viral vectors provide higher gene delivery efficiency but are more toxic and immunogenic than non-viral systems, which are being improved through novel design strategies.
INNOVATIONS: ARRIVAL OF GENE THERAPY
Brief discussion on gene therapy with recent innovations and recently approved medicines and their mechanisms.
Gene therapy
Gene therapy involves inserting normal genes into patients' cells to treat genetic diseases. There are two main types - germline therapy, which affects future generations, and somatic therapy, which only affects the patient. Gene therapy works by using modified viruses or non-viral methods to deliver normal genes to replace mutated ones. Some successful cases include treating blindness caused by a genetic eye disease and reducing Parkinson's disease symptoms. While offering hope for currently untreatable diseases, gene therapy faces challenges in delivery methods, costs, and ethical issues.
Gene therapy.pptxjjjjnnnsnskskslsllssnnznzj
Gene therapy involves inserting genes into an individual's cells and tissues to treat disease. It can replace mutated genes, inactivate genes, introduce new genes, or cause cancer cells to kill themselves. Viral and non-viral vectors are used to deliver genes. Gene therapy has been applied to treat genetic disorders, cancer, heart disease, and more. Recent advances include using gene therapy to regenerate heart muscle cells, treat Sanfilippo syndrome and brain cancers, and combining cellular and gene therapies for breast cancer. RNA and DNA can be estimated using reactions that form colored complexes measured spectrophotometrically.
Gene therapy
This document discusses gene therapy, which involves introducing a normal functional gene into a patient's cells to correct a genetic disorder. It provides examples of genetic disorders that may be candidates for gene therapy, such as Down syndrome, cystic fibrosis, and sickle cell anemia. The document outlines the mechanisms of gene therapy, including using viral vectors to deliver therapeutic genes to targeted cells. Requirements for effective gene therapy and different methods like ex vivo and in vivo approaches are also summarized. Potential advantages include providing treatment for previously untreatable genetic diseases, while disadvantages include high costs and safety concerns.
GENE THERAPY
This document provides an overview of gene therapy, including types, approaches, vectors used, methods of delivery, advantages, disadvantages, applications, and recent advances. It discusses somatic cell gene therapy, which aims to correct genetic defects in non-reproductive cells, and germline gene therapy, which could pass alterations to future generations but poses more risks. Ex vivo and in vivo gene therapy approaches are described. Viral and non-viral vectors as well as various delivery methods are outlined. Some applications including cystic fibrosis and cancer are highlighted. Risks and ethical considerations are also mentioned.
Gene therapy
Gene therapy involves inserting normal genes into cells to treat genetic diseases. There are two main methods - using viruses as vectors to deliver genes (viral vectors) or delivering naked DNA. Researchers are studying gene therapy for diseases like cancer, HIV, hemophilia and more. Some successes include treating blindness caused by a genetic defect using a virus to deliver a healthy gene to the eyes. Gene therapy has also reduced Parkinson's disease symptoms by delivering a gene to the brain to increase inhibitory neurotransmitters. While offering hope, gene therapy also faces challenges in terms of safety, cost and ethical issues.
Similar to Folleto Juan Felipe Giraldo Aristizábal (20)
NUCLEIC ACID BASED THERAPEUTIC DELIVERY SYSTEM by pramesh..pptx
NUCLEIC ACID BASED THERAPEUTIC DELIVERY SYSTEM by pramesh..pptx
Recently uploaded
Artificial Intelligence and Electronic Warfare
Artificial Intelligence and Electronic WarfarePapadakis K.-Cyber-Information Warfare Analyst & Cyber Defense/Security Consultant-Hellenic MoD
AI & Electronic WarfareHow to Interpret Trends in the Kalyan Rajdhani Mix Chart.pdf
A Mix Chart displays historical data of numbers in a graphical or tabular form. The Kalyan Rajdhani Mix Chart specifically shows the results of a sequence of numbers over different periods.
Northern Engraving | Nameplate Manufacturing Process - 2024
Manufacturing custom quality metal nameplates and badges involves several standard operations. Processes include sheet prep, lithography, screening, coating, punch press and inspection. All decoration is completed in the flat sheet with adhesive and tooling operations following. The possibilities for creating unique durable nameplates are endless. How will you create your brand identity? We can help!
Apps Break Data
How information systems are built or acquired puts information, which is what they should be about, in a secondary place. Our language adapted accordingly, and we no longer talk about information systems but applications. Applications evolved in a way to break data into diverse fragments, tightly coupled with applications and expensive to integrate. The result is technical debt, which is re-paid by taking even bigger "loans", resulting in an ever-increasing technical debt. Software engineering and procurement practices work in sync with market forces to maintain this trend. This talk demonstrates how natural this situation is. The question is: can something be done to reverse the trend?
Leveraging the Graph for Clinical Trials and Standards
Katja Glaß
OpenStudyBuilder Community Manager - Katja Glaß Consulting
Marius Conjeaud
Principal Consultant - Neo4j
Main news related to the CCS TSI 2023 (2023/1695)
An English 🇬🇧 translation of a presentation to the speech I gave about the main changes brought by CCS TSI 2023 at the biggest Czech conference on Communications and signalling systems on Railways, which was held in Clarion Hotel Olomouc from 7th to 9th November 2023 (konferenceszt.cz). Attended by around 500 participants and 200 on-line followers.
The original Czech 🇨🇿 version of the presentation can be found here: https://www.slideshare.net/slideshow/hlavni-novinky-souvisejici-s-ccs-tsi-2023-2023-1695/269688092 .
The videorecording (in Czech) from the presentation is available here: https://youtu.be/WzjJWm4IyPk?si=SImb06tuXGb30BEH .
Generating privacy-protected synthetic data using Secludy and Milvus
During this demo, the founders of Secludy will demonstrate how their system utilizes Milvus to store and manipulate embeddings for generating privacy-protected synthetic data. Their approach not only maintains the confidentiality of the original data but also enhances the utility and scalability of LLMs under privacy constraints. Attendees, including machine learning engineers, data scientists, and data managers, will witness first-hand how Secludy's integration with Milvus empowers organizations to harness the power of LLMs securely and efficiently.
Fueling AI with Great Data with Airbyte Webinar
This talk will focus on how to collect data from a variety of sources, leveraging this data for RAG and other GenAI use cases, and finally charting your course to productionalization.
Monitoring and Managing Anomaly Detection on OpenShift.pdf
Monitoring and Managing Anomaly Detection on OpenShift
Overview
Dive into the world of anomaly detection on edge devices with our comprehensive hands-on tutorial. This SlideShare presentation will guide you through the entire process, from data collection and model training to edge deployment and real-time monitoring. Perfect for those looking to implement robust anomaly detection systems on resource-constrained IoT/edge devices.
Key Topics Covered
1. Introduction to Anomaly Detection
- Understand the fundamentals of anomaly detection and its importance in identifying unusual behavior or failures in systems.
2. Understanding Edge (IoT)
- Learn about edge computing and IoT, and how they enable real-time data processing and decision-making at the source.
3. What is ArgoCD?
- Discover ArgoCD, a declarative, GitOps continuous delivery tool for Kubernetes, and its role in deploying applications on edge devices.
4. Deployment Using ArgoCD for Edge Devices
- Step-by-step guide on deploying anomaly detection models on edge devices using ArgoCD.
5. Introduction to Apache Kafka and S3
- Explore Apache Kafka for real-time data streaming and Amazon S3 for scalable storage solutions.
6. Viewing Kafka Messages in the Data Lake
- Learn how to view and analyze Kafka messages stored in a data lake for better insights.
7. What is Prometheus?
- Get to know Prometheus, an open-source monitoring and alerting toolkit, and its application in monitoring edge devices.
8. Monitoring Application Metrics with Prometheus
- Detailed instructions on setting up Prometheus to monitor the performance and health of your anomaly detection system.
9. What is Camel K?
- Introduction to Camel K, a lightweight integration framework built on Apache Camel, designed for Kubernetes.
10. Configuring Camel K Integrations for Data Pipelines
- Learn how to configure Camel K for seamless data pipeline integrations in your anomaly detection workflow.
11. What is a Jupyter Notebook?
- Overview of Jupyter Notebooks, an open-source web application for creating and sharing documents with live code, equations, visualizations, and narrative text.
12. Jupyter Notebooks with Code Examples
- Hands-on examples and code snippets in Jupyter Notebooks to help you implement and test anomaly detection models.
June Patch Tuesday
Ivanti’s Patch Tuesday breakdown goes beyond patching your applications and brings you the intelligence and guidance needed to prioritize where to focus your attention first. Catch early analysis on our Ivanti blog, then join industry expert Chris Goettl for the Patch Tuesday Webinar Event. There we’ll do a deep dive into each of the bulletins and give guidance on the risks associated with the newly-identified vulnerabilities.
Programming Foundation Models with DSPy - Meetup Slides
Prompting language models is hard, while programming language models is easy. In this talk, I will discuss the state-of-the-art framework DSPy for programming foundation models with its powerful optimizers and runtime constraint system.
Astute Business Solutions | Oracle Cloud Partner |
Your goto partner for Oracle Cloud, PeopleSoft, E-Business Suite, and Ellucian Banner. We are a firm specialized in managed services and consulting.
Freshworks Rethinks NoSQL for Rapid Scaling & Cost-Efficiency
Freshworks creates AI-boosted business software that helps employees work more efficiently and effectively. Managing data across multiple RDBMS and NoSQL databases was already a challenge at their current scale. To prepare for 10X growth, they knew it was time to rethink their database strategy. Learn how they architected a solution that would simplify scaling while keeping costs under control.
GraphRAG for LifeSciences Hands-On with the Clinical Knowledge Graph
Tomaz Bratanic
Graph ML and GenAI Expert - Neo4j
Introduction of Cybersecurity with OSS at Code Europe 2024
I develop the Ruby programming language, RubyGems, and Bundler, which are package managers for Ruby. Today, I will introduce how to enhance the security of your application using open-source software (OSS) examples from Ruby and RubyGems.
The first topic is CVE (Common Vulnerabilities and Exposures). I have published CVEs many times. But what exactly is a CVE? I'll provide a basic understanding of CVEs and explain how to detect and handle vulnerabilities in OSS.
Next, let's discuss package managers. Package managers play a critical role in the OSS ecosystem. I'll explain how to manage library dependencies in your application.
I'll share insights into how the Ruby and RubyGems core team works to keep our ecosystem safe. By the end of this talk, you'll have a better understanding of how to safeguard your code.
Mutation Testing for Task-Oriented Chatbots
Conversational agents, or chatbots, are increasingly used to access all sorts of services using natural language. While open-domain chatbots - like ChatGPT - can converse on any topic, task-oriented chatbots - the focus of this paper - are designed for specific tasks, like booking a flight, obtaining customer support, or setting an appointment. Like any other software, task-oriented chatbots need to be properly tested, usually by defining and executing test scenarios (i.e., sequences of user-chatbot interactions). However, there is currently a lack of methods to quantify the completeness and strength of such test scenarios, which can lead to low-quality tests, and hence to buggy chatbots.
To fill this gap, we propose adapting mutation testing (MuT) for task-oriented chatbots. To this end, we introduce a set of mutation operators that emulate faults in chatbot designs, an architecture that enables MuT on chatbots built using heterogeneous technologies, and a practical realisation as an Eclipse plugin. Moreover, we evaluate the applicability, effectiveness and efficiency of our approach on open-source chatbots, with promising results.
AppSec PNW: Android and iOS Application Security with MobSF
Mobile Security Framework - MobSF is a free and open source automated mobile application security testing environment designed to help security engineers, researchers, developers, and penetration testers to identify security vulnerabilities, malicious behaviours and privacy concerns in mobile applications using static and dynamic analysis. It supports all the popular mobile application binaries and source code formats built for Android and iOS devices. In addition to automated security assessment, it also offers an interactive testing environment to build and execute scenario based test/fuzz cases against the application.
This talk covers:
Using MobSF for static analysis of mobile applications.
Interactive dynamic security assessment of Android and iOS applications.
Solving Mobile app CTF challenges.
Reverse engineering and runtime analysis of Mobile malware.
How to shift left and integrate MobSF/mobsfscan SAST and DAST in your build pipeline.
Skybuffer SAM4U tool for SAP license adoption
Manage and optimize your license adoption and consumption with SAM4U, an SAP free customer software asset management tool.
SAM4U, an SAP complimentary software asset management tool for customers, delivers a detailed and well-structured overview of license inventory and usage with a user-friendly interface. We offer a hosted, cost-effective, and performance-optimized SAM4U setup in the Skybuffer Cloud environment. You retain ownership of the system and data, while we manage the ABAP 7.58 infrastructure, ensuring fixed Total Cost of Ownership (TCO) and exceptional services through the SAP Fiori interface.
Dandelion Hashtable: beyond billion requests per second on a commodity server
This slide deck presents DLHT, a concurrent in-memory hashtable. Despite efforts to optimize hashtables, that go as far as sacrificing core functionality, state-of-the-art designs still incur multiple memory accesses per request and block request processing in three cases. First, most hashtables block while waiting for data to be retrieved from memory. Second, open-addressing designs, which represent the current state-of-the-art, either cannot free index slots on deletes or must block all requests to do so. Third, index resizes block every request until all objects are copied to the new index. Defying folklore wisdom, DLHT forgoes open-addressing and adopts a fully-featured and memory-aware closed-addressing design based on bounded cache-line-chaining. This design offers lock-free index operations and deletes that free slots instantly, (2) completes most requests with a single memory access, (3) utilizes software prefetching to hide memory latencies, and (4) employs a novel non-blocking and parallel resizing. In a commodity server and a memory-resident workload, DLHT surpasses 1.6B requests per second and provides 3.5x (12x) the throughput of the state-of-the-art closed-addressing (open-addressing) resizable hashtable on Gets (Deletes).
Recently uploaded (20)
How to Interpret Trends in the Kalyan Rajdhani Mix Chart.pdf
How to Interpret Trends in the Kalyan Rajdhani Mix Chart.pdf
Overcoming the PLG Trap: Lessons from Canva's Head of Sales & Head of EMEA Da...
Overcoming the PLG Trap: Lessons from Canva's Head of Sales & Head of EMEA Da...
Northern Engraving | Nameplate Manufacturing Process - 2024
Northern Engraving | Nameplate Manufacturing Process - 2024
Leveraging the Graph for Clinical Trials and Standards
Leveraging the Graph for Clinical Trials and Standards
Generating privacy-protected synthetic data using Secludy and Milvus
Generating privacy-protected synthetic data using Secludy and Milvus
Monitoring and Managing Anomaly Detection on OpenShift.pdf
Monitoring and Managing Anomaly Detection on OpenShift.pdf
Programming Foundation Models with DSPy - Meetup Slides
Programming Foundation Models with DSPy - Meetup Slides
Astute Business Solutions | Oracle Cloud Partner |
Astute Business Solutions | Oracle Cloud Partner |
Freshworks Rethinks NoSQL for Rapid Scaling & Cost-Efficiency
Freshworks Rethinks NoSQL for Rapid Scaling & Cost-Efficiency
GraphRAG for LifeSciences Hands-On with the Clinical Knowledge Graph
GraphRAG for LifeSciences Hands-On with the Clinical Knowledge Graph
Introduction of Cybersecurity with OSS at Code Europe 2024
Introduction of Cybersecurity with OSS at Code Europe 2024
AppSec PNW: Android and iOS Application Security with MobSF
AppSec PNW: Android and iOS Application Security with MobSF
Dandelion Hashtable: beyond billion requests per second on a commodity server
Dandelion Hashtable: beyond billion requests per second on a commodity server
Folleto Juan Felipe Giraldo Aristizábal
- 1. Juan Felipe Giraldo Aristizábal Medicine Student
- 2. FOLDING
- 3. FOLDING
- 4. N • Gene therapy is the use of DNA as a pharmacological agent in order to alter certain parts of the genome of a life being that are mutated or dysfunctional, to repair the protein non efficient synthesis.
- 5. Gene Therapy Using Lentivirus to Treat Wiskott-Aldrich Syndrome Promising
- 6. Gene Therapy Using Lentivirus to Treat Wiskott- Aldrich Syndrome Promising • The Wiskott-Aldrich Syndrome is caused by a mutation in a gene that encodes the protein WASP. • The most often used therapy is a bone marrow or stem cell transplant from a matching donor, and can be curative mostly for those whose donor is strongly matched.
- 7. Gene Therapy Using Lentivirus to Treat Wiskott- Aldrich Syndrome Promising An alternative is to use a form of retrovirus using gene therapy in the laboratory and apply it to the blood cells previously obtained from the patient so the retrovirus can correct the defect, and then give the corrected cells back to the patient.
- 8. Gene Therapy Using Lentivirus to Treat Wiskott- Aldrich Syndrome Promising This approach has been successful in a number of diseases, including who had Wiskott-Aldrich Syndrome. However, over the long term, some patients with immune deficiencies, including those with Wiskott-Aldrich Syndrome, developed blood cancers. In this new research, the team used a partially inactivated lentivirus to take the normal gene into the cell, while reducing the risk of the gene inserting next to a cancer- promoting gene.
- 9. This type of treatment instead of previous treatments using gene therapy with retroviruses is an amazing option for this type of patients, considering the lower risk of developing a cancer or other collateral diseases. This gene therapy also allows the patients to have a more normal and comfortable life increasing their life quality.
- 10. Gene Therapy Cures a Severe Pediatric Neurodegenerative Disease in Animal Models
- 11. Gene Therapy Cures a Severe Pediatric Neurodegenerative Disease in Animal Models • Sanfilippo Syndrome type A, is a neurodegenerative disease caused by mutations in the gene that encodes the enzyme sulfamidase. • The accumulation of glycosaminoglicans in the cells causes neuroinflammation and organ dysfunction.
- 12. Gene Therapy Cures a Severe Pediatric Neurodegenerative Disease in Animal Models A team of researchers of the UAB's Centre for Animal Biotechnology and Gene Therapy (CBATEG), has developed a gene therapy treatment that cures this disease in animal models, with pre- clinical studies in mice and dogs. The treatment consists of a single surgical intervention in which an adenoassociated viral vector, which is completely harmless, is injected into the cerebrospinal fluid, the liquid that surrounds the brain and the spinal cord.
- 13. Gene Therapy Cures a Severe Pediatric Neurodegenerative Disease in Animal Models Once the enzyme's activity is restored, glycosaminoglican levels return to normal for life, their accumulation in cells disappears, along with the neuroinflammation and dysfunctions of the brain and other affected organs, and the animal's behaviour and its life expectancy return to normal.
- 14. It’s overwhelming how the gene therapy has gone so far to the point of cure once and for all a neurodegenerative disease like Sanfilippo Syndrome type A. Although the treatment has not being studied in humans, the fact that it has been successful in animal models leaves us with great expectations of what’s coming next.
- 19. • Baylor College of Medicine (2013, July 11). Gene therapy using lentivirus to treat Wiskott-Aldrich Syndrome promising. ScienceDaily. Retrieved July 22, 2013, from http://www.sciencedaily.com-/releases/201 3/07/130711142403.htm • Universitat Autònoma de Barcelona (2013, July 2). Gene therapy cures a severe pediatric neurodegenerative disease in animal models.ScienceDaily. Retrieved July 22, 2013, from http://www.sciencedaily.com-/releases/201 3/07/130702100344.htm
- 20. THANKS